PCK2 - phosphoenolpyruvate carboxykinase 2, mitochondrial Gene

Homo sapiens

Also known as PEPCK; PEPCK2; PEPCK-M

Gene ID: 5106 | Gene type: protein coding

About PCK2

Cytogenetic location: 14q11.2-q12 Genomic coordinates (GRCh38): 14:24,094,171-24,104,125 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 201 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 127.7), small intestine (RPKM 91.2) and 8 other tissues.

Summary

This gene encodes a mitochondrial Enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key Enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

PCK2 Products(4)

mRNA	Protein	Name
NM_001018073.3	NP_001018083.2	phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 2 precursor
NM_001291556.2	NP_001278485.1	phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3
NM_001308054.2	NP_001294983.1	phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3
NM_004563.4	NP_004554.3	phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 1 precursor

PCK2 Protein Structure

PEPCK_C

0
100
200
300
400
500
600
640 a.a.

Protein Preferred Names

Protein Names

phosphoenolpyruvate carboxykinase [GTP], mitochondrial

PEP carboxykinase

Recombinant PCK2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75957	PCK2 Protein, Human (sf9, His-GST)	Q16822 (L33-M640)	≥95%

Related Diseases

Diseases

Alias

Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Pck2 Deficiency	Phosphoenolpyruvate Carboxykinase 2 Deficiency
PCKDM	Pepck2 Deficiency
Pepck Deficiency, Mitochondrial	Pepck 2 Deficiency
Pepck2	Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency
M-PEPCKD

Pepck 1 Deficiency

Phosphoenolpyruvate Carboxykinase Deficiency	Phosphoenolpyruvate Carboxykinase Deficiency
Pep Carboxykinase Deficiency	Phosphoenolpyruvate Carboxykinase-1 Deficiency
Phosphoenolpyruvate Carboxylase Deficiency	Phosphopyruvate Carboxylase Deficiency
Pepck Deficiency

Hypoglycemia

Hypoglycaemia	Low Blood Sugar
Hypoglycaemia Nos	Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia	Hypoglycaemic Disorder Nos
Hypoglycaemic Syndrome

Glucose Intolerance

Glucose: Intolerance	Glucose: Malabsorption
Malabsorption Of Glucose	Impaired Glucose Tolerance

Hyperglycemia

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Diabetes Mellitus

Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10153	PCK2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PCK2	VGNC	VGNC:68727
Rattus norvegicus	PCK2	RGD	RGD:1311112
Canis familiaris	PCK2	VGNC	VGNC:44308
Macaca mulatta	PCK2	VGNC	VGNC:75780
Bos taurus	PCK2	VGNC	VGNC:32632
Mus musculus	PCK2	MGD	MGI:1860456
Others	PCK2	NCBI